A5065691821- Ethics in Clinical Research
- Genomics and Rare Diseases
- Digital Mental Health Interventions
- Mobile Health and mHealth Applications
- Mental Health Research Topics
- Health, Environment, Cognitive Aging
- Cancer Genomics and Diagnostics
- Biomedical Ethics and Regulation
- Behavioral Health and Interventions
- Research Data Management Practices
- Diabetes Management and Research
- Genetic Associations and Epidemiology
- Microbial Community Ecology and Physiology
- Molecular Biology Techniques and Applications
- Advanced Numerical Analysis Techniques
- Data-Driven Disease Surveillance
- Race, Genetics, and Society
- Sleep and related disorders
- Genetic factors in colorectal cancer
- Dietetics, Nutrition, and Education
- Lipoproteins and Cardiovascular Health
- Patient Dignity and Privacy
- Data Quality and Management
- Medication Adherence and Compliance
- Computational Geometry and Mesh Generation
Icahn School of Medicine at Mount Sinai
2015-2021
Mount Sinai Health System
2019
Harvard University
2010
Rapid advances in DNA sequencing promise to enable new diagnostics and individualized therapies. Achieving personalized medicine, however, will require extensive research on highly reidentifiable, integrated datasets of genomic health information. To assist with this, participants the Personal Genome Project choose forgo privacy via our institutional review board- approved “open consent” process. The contribution public data samples facilitates both scientific discovery standardization...
Since its initiation in 2005, the Harvard Personal Genome Project has enrolled thousands of volunteers interested publicly sharing their genome, health and trait data. Because these data are highly identifiable, we use an 'open consent' framework that purposefully excludes promises about privacy requires participants to demonstrate comprehension prior enrollment.Our model non-anonymous, public genomes led us a participatory researcher-participant communication interaction. The participants,...
The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007- even as the standards for redundancy have increased 7x 40x in order improve call rates. Coupled with low return on investment common single-nucleotide polymorphisms, this caused significant rise interest correlating sequences comprehensive environmental and trait data (GET). electronic health records, imaging, microbial, immunological, behavioral are also dropping quickly. Sharing such integrated GET...
Our international study, 'Your DNA, Your Say', uses film and an online cross-sectional survey to gather public attitudes toward the donation, access sharing of DNA information. We describe methodological approach used create engaging bespoke survey, suitable for translation into many different languages. address some particular challenges in designing a on subject genomics. In order understand significance genomic result, researchers clinicians alike use external databases containing medical...
Abstract Public acceptance is critical for sharing of genomic data at scale. This paper examines how pertains to the perceived similarities and differences between DNA other forms personal data. It explores perceptions representative publics from USA, Canada, UK Australia ( n = 8967) towards donation health Fifty-two percent this public held ‘exceptionalist’ views about genetics (i.e., believed different or ‘special’ compared types medical information). group was more likely be familiar with...
Abstract The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials data for human genome sequencing, as well methods comparison benchmarking. Here, we describe large, diverse set sequencing seven genomes; five are current or candidate NIST Reference Materials. pilot genome, NA12878, has been released RM 8398. We also from two Personal Project trios, one Ashkenazim Jewish ancestry Chinese ancestry. come 12...
The advent of next-generation sequencing has dramatically decreased the cost for whole-genome and increased viability its application in research clinical care. Personal Genome Project (PGP) provides unrestricted access to genomes individuals their associated phenotypes. This resource enabled Critical Assessment Interpretation (CAGI) create a community challenge assess bioinformatics community's ability predict traits from whole genomes. In CAGI PGP challenge, researchers were asked whether...
Background: The growing consumer digital tools market has made using individual health data to inform lifestyle changes more accessible than ever. n-of-1 trial -- a single participant, multiple crossover, comparative effectiveness offers methodological that link interventions directly with personalized outcomes determine the best treatment for an individual. We have developed complete platform support self-directed trials, comprised of virtual study on-boarding, visual informed consent,...
Abstract Background Many aspects of our lives are now digitized and connected to the internet. As a result, individuals creating collecting more personal data than ever before. This offers an unprecedented chance for human-participant research ranging from social sciences precision medicine. With this potential wealth come practical problems (such as how merge streams various sources), well ethical best balance risks benefits when enabling sharing by individuals). Results To begin address...
N-of-1 trials are single patient, multiple crossover, and comparative effectiveness experiments. Despite their rating as "level 1" evidence, they not routinely used in clinical medicine to evaluate the of treatments. We explored potential for implementing a mobile app-based n-of-1 trial platform collaborative use by clinicians patients support data-driven decisions around treatment insomnia. A survey assessing awareness utilization was administered healthcare professionals that frequently...
Familial hypercholesterolemia (FH) is a genetic disease associated with persistently elevated levels of low-density lipoprotein cholesterol (LDL-C), which ultimately leads to greatly increased rates atherosclerosis and cardiovascular disease. Atherosclerosis progression can be clinically approximated through measurement coronary artery calcification (CAC). CAC measured via electron beam computed tomography (EBCT), multi-slice (MSCT), or contrast-enhanced CT angiography (CTCA). Here, we...
Background N-of-1 trials promise to help individuals make more informed decisions about treatment selection through structured experiments that compare effectiveness by alternating treatments and measuring their impacts in a single individual. We created digital platform automates the design, administration, analysis of trials. Our first trial, app-based Brain Boost Study, invited two commonly consumed substances (caffeine L-theanine) on cognitive performance. Objective The purpose this...
We are witnessing a dramatic transformation in the way we do science. In recent years, significant flaws with existing scientific methods have come to light, including lack of transparency, insufficient involvement stakeholders, disconnection from public, and limited reproducibility research findings. These concerns sparked global movement revolutionize practice emergence Open Science. This new approach science extends principles openness entire cycle, hypothesis generation data collection,...
The growing consumer digital tools market has made using individual health data to inform lifestyle changes more accessible than ever. n-of-1 trial -- a single participant, multiple crossover, comparative effectiveness offers methodological that link interventions directly with personalized outcomes determine the best treatment for an individual. We have developed complete platform support self-directed trials, comprised of virtual study on-boarding, visual informed consent, device...